Clinical & Experimental Cardiology
Open Access
ISSN: 2155-9880
+44 1300 500008
ISSN: 2155-9880
+44 1300 500008
Bo Han
Provincial Hospital Affiliated to Shandong University, Jinan, Shandong,
Indiana
Research Article
A Novel Mutation in BMPR2 in Patients with Congenital Heart Disease and Pulmonary Arterial Hypertension
Author(s): Meili Wei, Bo Han, Fengqin Liu, Laicheng Wang and Jin Sun
Meili Wei, Bo Han, Fengqin Liu, Laicheng Wang and Jin Sun
Background: Pulmonary arterial hypertension (PAH) is caused by intensive remodeling of small pulmonary arteries. The main pathological characteristic is proliferation of endothelial and smooth muscle cells. PAH is clinically characterized by a sustained increase in pulmonary arterial pressure, right-sided heart failure and death. Genetic studies in patients of familial PAH (FPAH), idiopathic pulmonary arterial hypertension (IPAH) and congenital heart disease with pulmonary arterial hypertension (CHD/PAH) have identified heterozygous mutations in the bone morphogenetic protein type receptor II ( BMPR2 ) gene. To date, only six distinct missense mutations have been identified in patients with CHD/ PAH.
Methods: The protein-coding region and intron/exon boundaries of the BMPR2 gene were amplified by PCR using DNA samples from 80 Chinese Han pat.. View More»
DOI:
10.4172/2155-9880.1000181